CharlieSmithInterviewMy life changed Wednesday when I met Charlie Smith. At 22 years old, he’s gone through more than I can ever imagine.I’ve never had a seizure before. Charlie can have up to 40 a day.I complain about sitting in a chair for a few hours a day. Charlie can’t even sit up for more than a few minutes and he lays in bed for 23 hours a day. Charlie is a fighter. To live a relatively normal life, hanging out with friends, attending St Mary, and then to have it completely taken away… It really puts things in perspective.Charlie suffers from EDS, Ehlers Danlos Syndrome. It stops the tissue that holds your body together from forming. In January, Charlie’s EDS got much worse. His head is “hyper mobile,” it’s moving too much causing his skull to compress his brain stem on his vertebrae. He wears a neck brace at all times to help.But there’s more that can be done.Charlie can get an operation in Baltimore from a doctor who has successfully done the surgery 200 times. This operation could allow Charlie to walk again and even get back to a normal life.The problem is that the surgery is in the US, OHIP won’t cover it, and it’s going to cost at least $60 000.Please help the Smith family.Charlie has a lot of life left to live.http://www.indiegogo.com/Charliesbrain-campaign-----------------------------------------------------------------------------------------------------------------------------

He had been, like his namesake, a beautiful young man. But by the age of 41, although still handsome, Dorian Thomson – a great-nephew of former Prime Minister Harold Macmillan – was a frail figure, often confined to a wheelchair. Last December, after years of suffering from relentless pain that left him unable to walk, work or socialise, he took his own life. Now Dorian’s grieving partner Susan Millard, 48, has spoken out about his ordeal, to highlight the ‘invisible masses’ who have similar crippling and hard-to-treat problems.An estimated ten million Britons – and up to 25 per cent of over-65s – live with some degree of chronic pain. There is as wide a range of severity as there is of causes, which include genetic conditions and joint diseases.Read more: http://www.dailymail.co.uk/health/article-2220593/Dorian-Thomson-Male-models-girlfriend-reveals-killed-chronic-pain.html#ixzz2AXuw6KYE

The girl, from St. George, Ont., a small town about 100 km southwest of Toronto, has been diagnosed with a rare disorder that has sucked the collagen from her tissues and joints, leaving her wobbly and susceptible to a sudden movement that will lead to death.

“At this point,” says Erika’s mother, Michelle Crawford, “if someone knocks her the wrong way or she passes out and drops, she’s dead.”

There is no Canadian expert in the rare genetic condition known as Ehlers-Danlos syndrome - or EDS - so the family has reached out for help in the United States, only to find out they won’t be covered by OHIP’s out-of-province care.

Right now, Erika is in a Hamilton hospital experiencing severe headaches, blackouts, pain and weakness, but she is scheduled for an operation on Oct. 9 in Maryland with a doctor who has operated on 200 EDS patients with a 90% success rate.

The plan is to take one of Erika’s ribs and fuse it into the back of her neck to support her head. The end result will be a decrease in mobility but it will take the pressure off her artery.

“It’s not a cure because you can’t cure a connective tissue disease,” said Erika in a text message sent from her hospital bed. “It’s to save my life and allow me to walk, and hopefully fix my blinded vision in my left eye, stop the blackouts, the numbing in my legs and the paralysis.”

OHIP said it won’t pay for the surgery, but the family is going ahead anyway, paying for as much of the $60,000 bill as they can, and counting on others to help them cover the rest.

“This has been an incredibly scary, stressful, alone-feeling, watching our daughter deteriorate over the last two years with little to no help or answers,” Darren Crawford said in an e-mail to QMI Agency.

“We don’t have time for OHIP. Our daughter’s life is in danger. What would you do?”Erika’s troubles began in the fall of 2010 when she began experiencing nausea, terrible headaches, vomiting and swelling above her left eye.

A competitive soccer player since the age of four, Erika tried to tough it out when doctors suggested her symptoms were all in her head.

By the new year, Erika had lost 25 lbs in one month span and she was exhausted. Her hair was coming out, she was vomiting from the severe headaches and her blood pressure was all over the map.

“I can still see myself crying as I combed most of my hair out,” she wrote in her own account of the last two years.

Last February - 16 months after the symptoms began- a doctor mentioned the possibility of Ehlers-Danlos syndrome. A genetics doctor confirmed the diagnosis in April.

“The only recommendations I received from the doctor was to go pick up braces .. that there is no doctor that can help us in Canada,” Erika wrote.

In a similar case, the family of Brooklyn Mills of Oakville, Ont., who also took the surgery route south of the border, now owe about $250,000 and continue to appeal to OHIP.

If care is not available in Ontario, with prior written approval, coverage will be extended to out-of-province care, but getting approval requires a series of applications and reviews. The Crawfords have been denied once and are now in the appeal process, though they have been warned the government won’t pay for anything if they go ahead on their own.

Some friends have raised a few thousand dollars in a fundraiser, and students at St. John’s College in Brantford, Ont., where Erika had been an honour student, are selling bracelets.

“My parents don’t want me to worry about our financial situation,” Erika texted Friday. “They just want their little girl to focus on getting better and not to worry about the cost of the surgery.”

In the face of the constant threat of death, Erika remains stubbornly positive.

To help fund Erika Crawford’s operation in Maryland, contributions can be made at any CIBC branch under the account 02-952-8490783. For more information, to to the Facebook page on her struggle at http://bit.ly/ErikasEDS.-----------------------------------------------------------------------------------------------------------------------------

People living gently: Woman, family faces challenges after diagnosis of rare disease.Journal Staff, International Falls JournalPosted: Saturday, June 2, 2012 8:00 am

Editor’s Note: Tammy Kinnear, Emo, Ontario, is the daughter of Brad and Linda Carlson. The following was written by Kinnear’s sister.By SHANNON CARLSONDue to the rareness of Ehlers-Danlos Syndrome, most people have probably never heard or know of its heart-breaking effects, even though May has been declared an awareness month.Ehlers-Danlos Syndrome is a group of connective tissues disorders caused by defective genes that produce proteins used to assemble collagen in the body. It’s the collagen in connective tissues that supports everything in the body from vessels to skin to bones. The result of having these defective genes is a total body catastrophe that includes weak tissues and arteries, easy bruising, loose tendons, dental problems and severe pain, just to name a few. There is no cure and virtually no treatment for EDS.There are several classifications of EDS which identify the specific complications of each disorder. The vascular type is the most severe form due to the high risk of aneurysms and organ rupture. The life expectancy for a person with EDS vascular is 47.Tammy Kinnear, who lives in Emo, Ontario, was diagnosed with EDS vascular in 2010 after her 16-year-old daughter Tasha developed an aneurysm. Tasha survived her aneurysm but required emergency surgery to save her life. A vascular surgeon at the Health Sciences Centre in Winnipeg, Manitoba, noticed Tasha’s fragile vessels during surgery. She suspected Tasha had Ehlers-Danlos Syndrome and a few months later a genetic test confirmed that both she and her mother Tammy have EDS vascular.“It all started with a bump on her neck but she wasn’t in much pain,” says Kinnear. “The vascular surgeon remarked that people with aneurysms are usually on the floor crying with intense pain; however Tasha, who had an apple-sized aneurysm, was sitting up talking normally and very pleasant. Although EDS causes extreme pain all over our bodies, we also have to watch for painless bumps because those could be aneurysms.”According to the Collagen Diagnostic Laboratory in Seattle, Wash., where the genetic testing was conducted on the Kinnears, the type of EDS they have is extremely rare. Out of the more than 500 families the laboratory has diagnosed with EDS vascular, the Kinnears are only the 19th family to have such a rare form of the disorder. Typically, people with EDS vascular have a defect in the COL3A1 gene which produces an abnormal type of protein for the production of collagen in the body. In the Kinnears’case, the defected COL3A1 gene produces a normal protein, but only half of what a normal person’s body produces.“If you were holding a pen in your hand that didn’t have enough healthy collagen, your pen would bend and be soft and you wouldn’t be able to write with it,” explains Kinnear. “This is the weakness we have in our bodies.”Further genetic testing has confirmed that Kinnear’s son Carter, as well as her sister Pam, also have EDS vascular.“It has been an uphill battle,” says Kinnear. “We do not fit the EDS vascular profile so many of our doctors refused to believe we had it until they saw the proof in our genetic test results.”The features of EDS vascular are generally thought to include protruding eyes, a thin nose and lips, sunken cheeks, thin body frame and severe scarring. “The profile is inaccurate and outdated because the fact is we do have EDS vascular,” said Kinnear. “There could be a lot of people with EDS that are going undiagnosed simply because of this inaccurate profile.”Kinnear admits she’s had to search deep to find strength to cope. “One minute you’re worried about your children falling off their bikes or doing well in school and the next minute they’re being written about in medical journals and your whole world has changed,” she said. “You cope because you have to and you learn to accept your limitations. Before my diagnosis I was very hard on myself because I couldn’t understand why I was weaker than the people around me. A simple task like wringing out a dish cloth would feel like I broke my hand. It hurt being hugged by my children. I tried physiotherapy, weight training, acupuncture, medications, and much more; nothing worked. Since my diagnosis, I take each day at a time. If I have a migraine, I go to bed. If I’m dizzy, I sit. I make the most of my good days because I know a bad day will come and I won’t be able to get out of bed that day. My true pain is watching my children miss out on their childhood because the vascular specialists have made it very clear of their ‘can’t do’ lists; a list that includes swimming, violin, hockey and even blowing up a balloon is off limits because of the pressure it puts on the vessels.”Kinnear recalls a recent discussion with another vascular specialist in Winnipeg. “He said we have to learn to enjoy gentle things because we are gentle people; our bodies simply can’t do what other bodies can do,” she said.Kinnear and her family are working on creating a foundation to raise money for research and to spread awareness of EDS. She would also like to see an end to the EDS profiling.“We have been told by doctors that we have a longer life expectancy than those who suffer from the typical form of EDS vascular, though a clear prognosis has never been given because even the doctors are learning about this new type of EDS,” she said.Kinnear quotes a recent comment from a doctor: “You will likely live to be 70, it will be a horribly painful life, but you will most likely live.”“I can’t imagine the pain getting worse but I know it will. I don’t think anybody should have to live in pain,” said Kinnear. “My hope is that some form of treatment be available for people with EDS. I know that doctors from Winnipeg, Seattle and Minneapolis are trying to find effective treatments for EDS patients and I’m doing my part by spreading awareness.”***********************************************************************************************

Former model hanged himself after suffering years of crippling toothache.By Leon WatsonUPDATED: 20:29 GMT, 15 February 2012 A former model hanged himself after suffering years of crippling toothache, an inquest heard today. Dorian Thomson, 41, who worked as a model and as an art director for a Japanese fashion company, suffered from Ehlers-Danlos Syndrome, which causes increased elasticity in muscles and joint tissue.

But the court heard Mr Thomson, of north west London, suffered from toothache in every tooth for six years which he believed was triggered by a visit to the dentist, Westminster Coroner's Court heard.

Dorian Thomson, 41, was described as 'outgoing' and 'sociable' before a visit to the dentist left him in constant painHis friend Ross Illingworth told the court that, as a result of his condition, Mr Thomson suffered from sleep deprivation and a lack of nutrients as he was unable to eat properly 'because of damage to his teeth'.

He said: 'He was in an enormous amount of pain, almost all of his jaw suffered from tooth ache. [The pain] was unceasing... For the last few years of his life he was taking morphine.'Mr Illingworth, 41, who had been friends with Mr Thomson for ten years, said he had been helping him put together 'evidence concerning the orthodontistry which left him with his teeth in that condition' in the time before his death.

Mr Illingworth was due to meet him on December 7 last year but arrived at his friend's flat in Maida Vale to find him hanged.He told the court: 'He was hugely outgoing. He very much enjoyed the social life and social activities. He was previously a model and a model booker and a large amount of that job is social and he thrived on that. He was a high-flyer.'Mr Thomson had previously attempted to take an overdose.Mr Thomson eventually hanged himself after suffering crippling toothache for years, the inquest heard'I talked to Dorian about it and given the amount of medication, he was trying to end his life', said Mr Thomson.He was in 'more pain than anyone could ever conceive of for about six years', he added, and 'in addition to his tooth ache from every single tooth he suffered from Temporomandibular joint disorder. It meant that there was no support from his jaw and the jaw joint had been worn down.'By the time of his death, he said, Mr Thomson had become antisocial thanks to 'the onslaught of pain'.He described his body as feeling like it 'had pins in it' when he walked, which would cause 'grievous amounts of pain'.He told the inquest Mr Thomson, who turned on the Regent Street Christmas lights in 1999, had spoken about contacting Swiss assisted dying group Dignitas.'Given the degenerative nature of his condition and the complete lack of help that he was being given, he wanted to know that there was a way out,' said Mr Illingworth.Recording a verdict of hanging, adding that Mr Thomson killed himself 'while his mind was disturbed', Coroner Dr William Dolman said he was 'a man suffering from a number of serious medical problems. He had the genetic disorder EDS and the orthodontic treatments had not been successful.'He was a man in severe, constant pain for many years... He clearly had been a highly successful, outgoing man, but retreated into himself... he had issues with the unsuccessful treatment he had with orthodontics.'

Mr Thomson had worked as a male model and as an art director for a Japanese fashion company before his tragic death.He added: 'This intelligent man knew he had come to the end of his tether. A man with no way out of his predicament but to end his life.'Mr Illingworth said outside court Mr Thomson had undergone treatment to realign his jaw.He said: 'The EDS was triggered by orthodontic treatment and when that went wrong the orthodontist dumped him and refused to deal with him anymore. Other orthodontists were refusing to treat him and his condition deteriorated.'We believe there is systematic failure in the knowledge of EDS. We have to improve knowledge of it and get testing for it before orthodontistry or any form of surgery. That was Dorian's wish, that nobody should ever go through it again.'His partner of 12 years, Susan Millard, 48, added: 'I want to raise awareness of this. If any person can be prevented from going through what he went through it is worth it.'

Barbara Calder and her husband from Colorado Springs in Colorado cannot afford health insurance and are selling their estate to move to Beligium where they can find affordable health insurance and healthcare."My husband, Bruce, and I never were able to obtain medical insurance that would cover my condition, a devastating and disabling genetic disease called Ehlers-Danlos Syndrome - so we are having one massive estate sale, selling our home, and moving to Belgium, where I can get the care I need at a cost we can afford explains Barbara Calder of Colorado Springs, Colo."

"Bruce had received insurance through his job, but they refused to cover me, saying that the plan didn’t cover genetic counseling. The insurance company eventually went broke, saying they hadn’t anticipated people getting older or using the insurance they had paid for."

"Every joint in my body is failing save my left hip. I have to tape my toes together at night when even the pressure of a blanket can cause them to dislocate. I live in constant pain, and get only partial relief with ibuprofen, the only medication I can afford without health insurance.""There are very few doctors in this country who understand my condition, and people who suffer from this disease usually go undiagnosed and eventually lose their insurance. My mother died of the same condition, though also undiagnosed at age 40, my 19-year-old daughter developed symptoms at age 15, and my 22- year-old son is beginning to experience problems.""I want health insurance companies to be abolished, because they aren't in the business to care for the sick. Their main function is to make profits, and the sick just get in their way. Imagine every person paying a percentage of their income into health services that would help all Americans? That is how many European Union (EU) countries do it,” Calder continued.“Most people we met in the EU on our trip last week were proud to pay into such a system, because it made their country healthier and better for all who lived there."